Results 1 to 10 of about 114,676 (292)

Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia [PDF]

Biomedicines, 2023
Introduction: Previously, it was assumed that genetic influence played a minor role in acute myeloid leukemia (AML). Increasing evidence of germline mutations has emerged, such as DDX41 germline mutation associated with familial AML. Case presentation: A
Jan Nicolai Wagner, Maximilian Al-Bazaz, Anika Forstreuter, Mohammad Ibrahim Hammada, Jurek Hille, Dzhoy Papingi, Carsten Bokemeyer, Walter Fiedler   +7 more
doaj   +2 more sources

Direct measurement of the male germline mutation rate in individuals using sequential sperm samples [PDF]

Nature Communications
Mutations that accumulate in the human male germline with age are a major driver of genetic diversity and contribute to genetic diseases. However, aging-related male germline mutation rates have not been measured directly in germline cells (sperm) at the
Jonathan E. Shoag, Amoolya Srinivasa, Caitlin A. Loh, Mei Hong Liu, Emilie Lassen, Shana Melanaphy, Benjamin M. Costa, Marta Grońska-Pęski, Nisrine T. Jabara, Shany Picciotto, Una Choi, Anyull D. Bohorquez, Christopher E. Barbieri, Pamela Callum, Anne-Bine Skytte, Gilad D. Evrony   +15 more
doaj   +2 more sources

Fine-tuning germline mutation rates across evolution [PDF]

Trends Genet, 2023
Bush S, Goriely A.
europepmc   +3 more sources

Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures.

PLoS ONE, 2020
Mutations in BRCA1 and BRCA2 cause deficiencies in homologous recombination repair (HR), resulting in repair of DNA double-strand breaks by the alternative non-homologous end-joining pathway, which is more error prone.
Weston R Bodily, Brian H Shirts, Tom Walsh, Suleyman Gulsuner, Mary-Claire King, Alyssa Parker, Moom Roosan, Stephen R Piccolo   +7 more
doaj   +2 more sources

A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature

JTO Clinical and Research Reports, 2022
Introduction: Germline CHEK2 mutations are rare and have not been associated with increased risk of NSCLC. Methods: We identified two sequential primary NSCLCs harboring distinct actionable driver alterations (EGFR E746 _S752 delinsV and CD74-ROS1) in a ...
Shannon S. Zhang, MD, Jessica K. Lee, MSc, Hanna Tukachinsky, PhD, Alexa B. Schrock, PhD, Misako Nagasaka, MD, PhD, Sai-Hong Ignatius Ou, MD, PhD   +5 more
doaj   +1 more source

Germline mutations predisposing to melanoma [PDF]

Journal of Cutaneous Pathology, 2020
AbstractNearly 15% of melanomas occur in patients with a family history and a subset of these patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations are responsible for the majority of hereditary melanoma, but many other susceptibility genes have been discovered in recent years, including CDK4, TERT, ACD, TERF2IP, POT1 ...
Atrin Toussi, Nicole Mans, Jeanna Welborn, Maija Kiuru   +3 more
openaire   +4 more sources

Novel PHOX2B germline mutation in childhood medulloblastoma: a case report

Hereditary Cancer in Clinical Practice, 2021
Background Medulloblastoma is an aggressive brain tumor mostly found in children, few studies on pathogenic germline mutations predisposing this disease was reported. Case presentation We present an 11-year-old male with medulloblastoma, who harbors a de
Caiping Ke, Xiaoshun Shi, Allen Menglin Chen, Chaoming Li, Bifeng Jiang, Kailing Huang, Zhouxia Zheng, Yanhui Liu, Zhuona Chen, Yingjun Luo, Huaming Lin, Jiexia Zhang   +11 more
doaj   +1 more source

Retinoblastoma in twins: Risk assessment of genotypic variants

Indian Journal of Ophthalmology, 2021
Purpose: To describe methods of risk assessment in twins with retinoblastoma (RB). Methods: A case series of four RB probands with a twin sibling. Family status, clinical presentation, and RB1 germline status-based risk assessment were analyzed. Results:
Vishal Raval, Meghan DeBenedictis, Randy Bowen, Hansell Soto, Jacquelyn Davanzo, Arun Singh   +5 more
doaj   +1 more source

Case report: Neuroendocrine breast carcinoma with a germline EGFR T790M mutation

Frontiers in Oncology, 2023
BackgroundThe epidermal growth factor receptor (EGFR) p.Thr790Met (T790M) mutation was discovered as a resistance mechanism in patients with lung cancer treated with first- and second-generation tyrosine kinase inhibitors.
Olivia A. Sagan, Anna Rothstein, Bhaghyasree Jambunathan, Mersiha Hadziahmetovic, Anita Antoniolli, M. Hammad Rashid   +5 more
doaj   +1 more source

The Impact of DNA Methylation Dynamics on the Mutation Rate During Human Germline Development

G3: Genes, Genomes, Genetics, 2020
DNA methylation is a dynamic epigenetic modification found in most eukaryotic genomes. It is known to lead to a high CpG to TpG mutation rate. However, the relationship between the methylation dynamics in germline development and the germline mutation ...
Yijia Zhou, Funan He, Weilin Pu, Xun Gu, Jiucun Wang, Zhixi Su   +5 more
doaj   +1 more source